SDHAF2 succinate dehydrogenase complex assembly factor 2
Information
- Symbol
- SDHAF2
- Type
- protein-coding
- Description
- succinate dehydrogenase complex assembly factor 2
- Entrez Gene ID
- 54949
- Genome
- hg19
- Position
- chr11:61,197,596-61,214,205
- Genome
- hg38
- Position
- chr11:61,430,124-61,446,733
- MIM
- 613019 OMIM
- HGNC
- HGNC:26034 HGNC
- Ensembl
- ENSG00000167985 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 1 | 38 |
| Likely pathogenic | 0 | 26 |
| Benign | 2 | 50 |
| Likely benign | 1 | 338 |
| Conflicting classifications of pathogenicity | 0 | 72 |
| not provided | 4 | 2 |
| Uncertain significance | 5 | 618 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
406 |
 |
628 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | C11orf79 |
| SYNONYM | PGL2 |
| SYNONYM | PPGL2 |
| SYNONYM | SDH5 |
| SYNONYM | hSDH5 |
| MIM | 613019 OMIM |
| HGNC | HGNC:26034 HGNC |
| Ensembl | ENSG00000167985 Ensembl |
| AllianceGenome | HGNC:26034 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000543265.1 | hg38 | chr11 | 61,430,144 | 61,446,115 | 15,972 |
| ENST00000537782.5 | hg38 | chr11 | 61,430,125 | 61,446,059 | 15,935 |
| ENST00000301761.7 | hg38 | chr11 | 61,430,124 | 61,446,733 | 16,610 |
| ENST00000713960.1 | hg38 | chr11 | 61,430,065 | 61,446,740 | 16,676 |
| ENST00000713964.1 | hg38 | chr11 | 61,430,134 | 61,446,733 | 16,600 |
| ENST00000713963.1 | hg38 | chr11 | 61,430,124 | 61,446,839 | 16,716 |
| ENST00000713959.1 | hg38 | chr11 | 61,430,050 | 61,446,761 | 16,712 |
| ENST00000542074.1 | hg38 | chr11 | 61,430,105 | 61,446,697 | 16,593 |
| ENST00000713959.1 | hg19 | chr11 | 61,197,522 | 61,214,233 | 16,712 |
| ENST00000713960.1 | hg19 | chr11 | 61,197,537 | 61,214,212 | 16,676 |
| ENST00000542074.1 | hg19 | chr11 | 61,197,577 | 61,214,169 | 16,593 |
| ENST00000301761.7 | hg19 | chr11 | 61,197,596 | 61,214,205 | 16,610 |
| ENST00000713963.1 | hg19 | chr11 | 61,197,596 | 61,214,311 | 16,716 |
| ENST00000537782.5 | hg19 | chr11 | 61,197,597 | 61,213,531 | 15,935 |
| ENST00000713964.1 | hg19 | chr11 | 61,197,606 | 61,214,205 | 16,600 |
| ENST00000543265.1 | hg19 | chr11 | 61,197,616 | 61,213,587 | 15,972 |
| Key | Value |
|---|---|
| strand | + |
| start | 61,197,596 |
| Gene Symbol | SDHAF2 |
| Entrez GeneId | 54,949 |
| Chr Band | 11q12.2 |
| end | 61,214,238 |
| chr | chr11 |
| Name | succinate dehydrogenase complex assembly factor 2 |
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